A novel mutation Ala57Val of the ELA2 gene in a Korean boy with severe congenital neutropenia.
Lee
Seung-Tae
ST
Yoon
Hoi-Soo
HS
Kim
Hee-Jin
HJ
Lee
Jae-Hee
JH
Park
Jun-Hee
JH
Kim
Sun-Hee
SH
Seo
Jong-Jin
JJ
Im
Ho Joon
HJ
D000409:Alanine / Q000235:genetics / Q000378:metabolism; D002675:Child, Preschool; D019295:Computational Biology; D006801:Humans; D007723:Korea; D019272:Leukocyte Elastase / Q000235:genetics* / Q000378:metabolism; D008297:Male; D009154:Mutation / Q000235:genetics*; D009503:Neutropenia / Q000151:congenital* / Q000201:enzymology / Q000235:genetics* / Q000473:pathology
D019272:Leukocyte Elastase; D000409:Alanine